Mutagenetix > Incidental Mutation

Incidental Mutation 'R2290:Khdrbs3'

244296

Institutional Source

Beutler Lab

Gene Symbol

Khdrbs3

Ensembl Gene

ENSMUSG00000022332

Gene Name

KH domain containing, RNA binding, signal transduction associated 3

Synonyms

Etle, SLM-2, T-STAR, Salp

MMRRC Submission

040289-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2290 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

68800269-68973060 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 68901610 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 132 (R132C)

Ref Sequence

ENSEMBL: ENSMUSP00000154871 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022954] [ENSMUST00000229234] [ENSMUST00000229683] [ENSMUST00000230073] [ENSMUST00000230847]

AlphaFold

Q9R226

Predicted Effect

probably damaging
Transcript: ENSMUST00000022954
AA Change: R220C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022954
Gene: ENSMUSG00000022332
AA Change: R220C

Domain	Start	End	E-Value	Type
PDB:2XA6\|B	2	27	2e-7	PDB
low complexity region	30	44	N/A	INTRINSIC
KH	54	152	8.92e-5	SMART
Pfam:Sam68-YY	266	320	3.6e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000229234
AA Change: R220C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000229683
AA Change: R220C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000230073

Predicted Effect

probably damaging
Transcript: ENSMUST00000230847
AA Change: R132C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (73/73)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile with no detectable spatial memory deficits. Males sire slightly smaller litters than control males. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1l2	T	C	10: 83,363,177 (GRCm39)	D62G	probably damaging	Het
Ambp	T	C	4: 63,061,924 (GRCm39)	Y335C	probably damaging	Het
Arid4a	G	T	12: 71,108,315 (GRCm39)	G40V	probably damaging	Het
Asb13	G	A	13: 3,699,418 (GRCm39)	G206D	probably damaging	Het
Ccdc7b	A	G	8: 129,857,587 (GRCm39)		probably benign	Het
Cdh15	A	T	8: 123,586,056 (GRCm39)	N145I	probably damaging	Het
Celsr3	T	C	9: 108,720,423 (GRCm39)	I2565T	probably damaging	Het
Cfap43	A	T	19: 47,761,574 (GRCm39)	M840K	probably damaging	Het
Clip4	T	C	17: 72,117,948 (GRCm39)	V331A	possibly damaging	Het
Cnnm1	A	G	19: 43,479,941 (GRCm39)	T829A	probably benign	Het
Col24a1	G	A	3: 145,218,950 (GRCm39)	G1457E	probably damaging	Het
D6Ertd527e	A	G	6: 87,088,527 (GRCm39)	N230S	unknown	Het
Dll1	T	C	17: 15,595,010 (GRCm39)	D89G	probably benign	Het
Dst	T	A	1: 34,268,281 (GRCm39)	V2901E	probably damaging	Het
Dvl1	G	A	4: 155,932,273 (GRCm39)	V28I	possibly damaging	Het
Efl1	A	T	7: 82,426,878 (GRCm39)	K1125N	probably damaging	Het
Efr3a	T	A	15: 65,721,688 (GRCm39)	F437L	probably benign	Het
Eqtn	GTTCTTCTTC	GTTCTTC	4: 94,815,179 (GRCm39)		probably benign	Het
Ermp1	T	C	19: 29,601,178 (GRCm39)	D523G	probably damaging	Het
Gm38999	A	G	7: 43,077,123 (GRCm39)	E5G	probably benign	Het
Gm5828	C	T	1: 16,838,568 (GRCm39)		noncoding transcript	Het
Gnas	T	C	2: 174,141,803 (GRCm39)	F717L	probably benign	Het
H6pd	T	A	4: 150,066,338 (GRCm39)	S683C	probably damaging	Het
Il23r	G	A	6: 67,400,845 (GRCm39)	T495I	probably benign	Het
Itpr2	T	C	6: 146,324,326 (GRCm39)	N135D	probably damaging	Het
Kcns2	T	A	15: 34,838,655 (GRCm39)	L6Q	possibly damaging	Het
Kif2b	A	G	11: 91,466,522 (GRCm39)	V587A	probably benign	Het
Kng1	A	T	16: 22,897,875 (GRCm39)	H425L	possibly damaging	Het
Letm1	A	AG	5: 33,926,859 (GRCm39)		probably null	Het
Lrrc8e	T	C	8: 4,281,770 (GRCm39)	M35T	probably damaging	Het
Med12l	A	G	3: 59,152,359 (GRCm39)	N1048S	probably damaging	Het
Mex3c	A	C	18: 73,723,764 (GRCm39)	N619T	probably damaging	Het
Mfsd4b1	G	A	10: 39,879,327 (GRCm39)	T190I	probably damaging	Het
Ncam1	A	G	9: 49,434,951 (GRCm39)		probably benign	Het
Nlrp6	G	A	7: 140,502,076 (GRCm39)	G133S	probably damaging	Het
Oplah	A	G	15: 76,186,925 (GRCm39)	V630A	probably benign	Het
Or1e26	G	T	11: 73,479,745 (GRCm39)	A273D	probably benign	Het
Or2y1	A	G	11: 49,385,857 (GRCm39)	M166V	probably benign	Het
Or5ak24	C	T	2: 85,260,544 (GRCm39)	V210M	possibly damaging	Het
Or8g36	A	G	9: 39,422,974 (GRCm39)	L14P	possibly damaging	Het
Pcnx2	A	T	8: 126,604,334 (GRCm39)		probably benign	Het
Pkhd1l1	A	T	15: 44,391,646 (GRCm39)	T1571S	probably benign	Het
Pramel13	T	A	4: 144,121,269 (GRCm39)	T252S	probably benign	Het
Pramel13	G	T	4: 144,121,692 (GRCm39)	H111N	probably benign	Het
Prr22	T	G	17: 57,078,884 (GRCm39)	F346V	probably benign	Het
Prr30	T	C	14: 101,436,211 (GRCm39)	N117S	possibly damaging	Het
Ptgfrn	A	G	3: 100,984,677 (GRCm39)	S172P	possibly damaging	Het
Ptprc	C	T	1: 138,038,926 (GRCm39)	V364I	probably benign	Het
Ptprz1	T	C	6: 23,000,990 (GRCm39)	S1027P	probably damaging	Het
Rinl	T	C	7: 28,491,696 (GRCm39)	V83A	probably benign	Het
Ros1	A	T	10: 51,994,477 (GRCm39)	S1268T	probably damaging	Het
Scly	T	C	1: 91,226,172 (GRCm39)		probably null	Het
Slc25a1	C	T	16: 17,743,712 (GRCm39)	V186M	possibly damaging	Het
Stk36	T	G	1: 74,665,303 (GRCm39)		probably benign	Het
Syn2	A	G	6: 115,251,190 (GRCm39)	T449A	possibly damaging	Het
Tecpr1	T	C	5: 144,150,881 (GRCm39)	D309G	probably damaging	Het
Tent4b	T	C	8: 88,978,603 (GRCm39)	S435P	probably damaging	Het
Tns2	T	A	15: 102,020,458 (GRCm39)	Y775N	probably damaging	Het
Tril	G	T	6: 53,795,012 (GRCm39)	R737S	probably damaging	Het
Ttl	G	A	2: 128,923,190 (GRCm39)	G177D	possibly damaging	Het
Twf1	A	G	15: 94,484,400 (GRCm39)	S41P	probably damaging	Het
Unc79	C	T	12: 103,112,625 (GRCm39)	T2174M	probably damaging	Het
Vangl2	T	A	1: 171,836,113 (GRCm39)	K340*	probably null	Het
Vmn2r72	T	A	7: 85,387,549 (GRCm39)	T672S	probably damaging	Het
Vwa7	A	G	17: 35,236,187 (GRCm39)	D47G	probably damaging	Het
Zc3h12d	A	G	10: 7,743,223 (GRCm39)	H331R	probably benign	Het
Zfa-ps	T	C	10: 52,421,112 (GRCm39)		noncoding transcript	Het
Zfp141	A	T	7: 42,124,649 (GRCm39)	C608S	probably damaging	Het
Zfp422	A	G	6: 116,603,603 (GRCm39)	I132T	possibly damaging	Het
Zfp652	A	G	11: 95,640,849 (GRCm39)	Y258C	possibly damaging	Het

Other mutations in Khdrbs3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02333:Khdrbs3	APN	15	68,921,243 (GRCm39)	missense	probably damaging	1.00
IGL02756:Khdrbs3	APN	15	68,896,685 (GRCm39)	missense	probably benign	0.28
IGL03303:Khdrbs3	APN	15	68,896,672 (GRCm39)	missense	probably benign	0.00
R0014:Khdrbs3	UTSW	15	68,896,684 (GRCm39)	missense	probably benign	0.00
R0066:Khdrbs3	UTSW	15	68,866,886 (GRCm39)	splice site	probably benign
R0487:Khdrbs3	UTSW	15	68,889,210 (GRCm39)	missense	probably damaging	1.00
R1500:Khdrbs3	UTSW	15	68,800,635 (GRCm39)	missense	possibly damaging	0.90
R1871:Khdrbs3	UTSW	15	68,921,291 (GRCm39)	missense	probably damaging	1.00
R2002:Khdrbs3	UTSW	15	68,885,328 (GRCm39)	intron	probably benign
R2111:Khdrbs3	UTSW	15	68,896,673 (GRCm39)	missense	probably benign	0.25
R2191:Khdrbs3	UTSW	15	68,964,809 (GRCm39)	missense	probably damaging	0.96
R2516:Khdrbs3	UTSW	15	68,896,544 (GRCm39)	splice site	probably benign
R2940:Khdrbs3	UTSW	15	68,921,239 (GRCm39)	missense	probably damaging	1.00
R3418:Khdrbs3	UTSW	15	68,921,224 (GRCm39)	splice site	probably benign
R5770:Khdrbs3	UTSW	15	68,921,312 (GRCm39)	critical splice donor site	probably null
R5885:Khdrbs3	UTSW	15	68,896,547 (GRCm39)	critical splice acceptor site	probably null
R6829:Khdrbs3	UTSW	15	68,964,810 (GRCm39)	missense	possibly damaging	0.58
R7288:Khdrbs3	UTSW	15	68,921,262 (GRCm39)	missense	possibly damaging	0.95
R9215:Khdrbs3	UTSW	15	68,964,798 (GRCm39)	missense	probably damaging	0.99
R9732:Khdrbs3	UTSW	15	68,885,212 (GRCm39)	missense	probably damaging	1.00
Z1176:Khdrbs3	UTSW	15	68,889,316 (GRCm39)	missense	probably damaging	1.00
Z1177:Khdrbs3	UTSW	15	68,800,680 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AAGAAGCTAAGCTCTGCCTGG -3'
(R):5'- ACTCGGTCTCCAACACTATTGC -3'

Sequencing Primer
(F):5'- AAGCTAAGCTCTGCCTGGGATATTC -3'
(R):5'- GCCTTTACTTACATACTCTCCATAGG -3'

Posted On

2014-10-30